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Purpose: The present systematic review aimed to assess the fecundity of women with congenital uterine anomalies (CUAs) undergoing assisted reproductive technology (ART)., Methods: The present systematic review of the literature was reported according to the PRISMA guidelines. We systematically searched PubMed, MEDLINE, Embase and Scopus, from database inception to 17th October 2023. Studies were deemed eligible only if they included women with CUAs clearly fitting into one of the categories of the ASRM Müllerian anomalies classification 2021., Results: Data relevant to the reproductive outcomes of women with CUAs who underwent ART were extracted from 55 studies. Regarding Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, studies on gestational surrogacy reported a live birth rate (LBR) ranging from 37 to 54%. Uterus transplant, although still experimental, showed promising results. Most studies reported a negative impact of unicornuate uterus and partial or complete septate uterus on both the miscarriage rate (MR) and the live birth rate (LBR). The reproductive prognosis of women with unicornuate uterus was shown to be particularly poor in case of twin pregnancy. Uterus didelphys, bicornuate and arcuate uterus seem not to negatively impact the ART reproductive outcomes. Uterus didelphys was associated with an increased risk of preterm birth (PTB), cesarean section and low birth weight (LBW)., Conclusion: Women with CUAs should be informed regarding the impact (if any) of their congenital anomaly on both the chances of success of ART and on pregnancy-related complications. Elective single embryo transfer (eSET) should always be the first choice in patients with an increased baseline obstetric risk., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

This case report presents an 18-year-old female patient diagnosed with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a rare congenital anomaly causing primary amenorrhea. MRI revealed vaginal agenesis and a left hemiuterus associated with hematosalpinx and cervical agenesis, while both ovaries were normal. The patient underwent successful neovagina creation using the McIndoe technique, involving a split-thickness skin graft from below the umbilicus. Postoperative follow-up showed excellent graft adherence and significant improvement in sexual function and quality of life. This case highlights the efficacy of the McIndoe technique for neovagina creation in MRKH syndrome and underscores the importance of a multidisciplinary approach in diagnosis and treatment, including psychological support., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Study Objective: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by the congenital absence of the uterus and vagina, sometimes with associated extragenital anomalies. Currently, there is limited literature on pelvic pain and comorbid pain syndromes in people with MRKH. The aims of this scoping review were to summarize existing literature on pelvic and generalized persistent pain syndromes associated with MRKH and to identify knowledge gaps for further research into this field., Methods: This scoping review followed the Joanna Briggs Institute framework. The population of interest was patients with a diagnosis of MRKH. MEDLINE, CINAHL, Scopus, Cochrane, Embase, and Emcare databases were searched. Articles that did not meet the inclusion criteria or critical appraisal standards were excluded. The resultant articles were reviewed by 2 independent researchers, and a third was used in cases of disagreement. A descriptive analytical method was used for data analysis., Results: We screened 3348 articles for eligibility. Of these, 39 articles, which described 1353 cases of MRKH, met the criteria. Four studies described baseline pelvic pain in MRKH, 19 described acute presentations, and 13 described postintervention pain levels., Conclusion: Despite the paucity of research, this review found that cyclic pelvic pain was mostly present in women with uterine remnants, whereas pelvic pain in those without remnants was poorly understood. There were no studies exploring generalized persistent pain syndromes in MRKH. Further cross-sectional studies are needed to elucidate the prevalence and levels of pain syndromes in MRKH., Competing Interests: Conflicts of interest RUG, CP, and IW have no potential conflicts to disclose. SRG is a consultant obstetrician and gynecologist and pain medicine specialist at The Royal Children's Hospital, Melbourne. ND is a consultant obstetrician and gynecologist at Cairns Hospital., (Crown Copyright © 2024. Published by Elsevier Inc. All rights reserved.)

Uterus transplantation is the surgical treatment for absolute uterine factor infertility (AUFI), a congenital or acquired condition characterized by the absence of a uterus. More than 80 transplants have been performed worldwide, resulting in more than 30 live births, originating both from living and deceased donors. The collection of published articles on deceased donor uterus transplantations was performed in PubMed and SCOPUS by searching for the terms "Uterus transplantation" AND "deceased donor"; from the 107 articles obtained, only case reports and systematic reviews of deceased donor uterus transplantations and the resulting live births were considered for the present manuscript. The extracted data included the date of surgery (year), country, recipient (age and cause of AUFI) and donor (age and parity) details, outcome of recipient surgery (hysterectomy), and live births (date and gestational age). The search of peer-reviewed publications showed 24 deceased donor uterus transplantations and 12 live births (a birth rate of 66%) with a 25% occurrence of graft loss during follow-up (6 of 24). Among this series, twelve transplants were performed in the USA (seven births), five in the Czech Republic (one birth), three in Italy (one birth), two in Turkey (two births), and two in Brazil (one birth). The median recipient age was 29.8 years (range 21-36), while the median donor age was 36.1 years (range 20-57). Of 24 recipients, 100% were affected by MRKH (Mayer-Rokitanski-Kuster-Hauser) syndrome. Two live births were reported from nulliparous donors. Deceased donor uterus transplantation birth rates are very similar to the living donor rates reported in the literature, but ethical implications could be less important in the first group. It is necessary to register every case in the International Registry for Uterus Transplantation in order to perform a systematic review and comparison with living donor rates.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also known as Müllerian aplasia, is a congenital condition characterized by uterine and upper vaginal aplasia. It affects females with a normal female karyotype and typical secondary sex characteristics. The aim of this case report was to highlight the multidisciplinary management approach for MRKH syndrome, focusing on tailored interventions to address physical and psychological challenges and improve reproductive prospects. A 26-year-old married female presented to Acharya Vinoba Bhave Rural Hospital (AVBRH), Sawangi, Wardha, India, in January 2023 with primary amenorrhea. Physical examination revealed a blind vagina and a hypoplastic uterus, indicative of MRKH syndrome. Further evaluation, including pelvic magnetic resonance imaging (MRI), confirmed Müllerian duct abnormalities and bilateral ovarian anomalies. The absence of a functional vagina significantly impacted the patient's quality of life, leading to difficulties with sexual intercourse and emotional distress related to infertility. A collaborative approach involving a gynecologist and a psychiatrist at AVBRH was initiated to address these challenges. The patient underwent vaginoplasty to create a neovagina, enhancing the sexual function and intimate relationship with the spouse. However, due to the hypoplastic uterus, achieving motherhood through traditional means was not possible. Therefore, assisted reproductive techniques, in particular surrogacy, were explored. Normal, functional ovaries were harvested from the patient for use in surrogacy procedures. This comprehensive management strategy exemplifies the challenges associated with MRKH syndrome and underscores the importance of tailored interventions and long-term follow-up. The case highlights the significance of collaborative care in improving the quality of life and reproductive prospects for individuals with MRKH syndrome., Competing Interests: All the authors declare that there are no conflicts of interest., (© 2024 The Author(s).)

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder that affects the female reproductive system and is characterized by an underdeveloped or absent uterus and vagina. A 17-year-old unmarried female was admitted into the Department of Endocrinology, Mymensingh Medical College Hospital, Bangladesh in November 2023 for evaluation of primary amenorrhea and poorly controlled diabetes mellitus. She was the 5th issue of non-consanguineous marriage delivered at term by normal vaginal delivery. Her growth pattern and developmental milestones were normal. She had no history of galactorrhea, chronic or cyclic pelvic pain, thyroid dysfunction, excessive exercise, psychiatric illness, or drug abuse. There was no history of such type of illness in her family. She was diagnosed with diabetes mellitus two years back without classic symptoms, and at that time, her blood glucose was 22 mmol/L. She was prescribed metformin and gliclazide. She had no history of hypoglycemia, hyperglycemic crises, or hospital admission. On examination, her body build and nutritional status were normal. Anemia, jaundice, edema, dehydration, lymphadenopathy, acne, hirsutism, acanthosis nigricans, abdominal striae and vitiligo were absent. Her blood pressure was 110/70 without the postural drop, thyroid gland was not enlarged, anthropometric measurements were normal and BMI was 18.4 kg/m2. Her tanner stage was P5 & B4. Genital examination revealed normal female external genitalia, and a blind vaginal pouch was found. Other systemic examinations revealed no abnormality. On laboratory reports, her blood glucose was uncontrolled (HbA1c-10.2%) with glycosuria. Thyroid function test and gonadal hormones were normal. Ultrasonogram of the abdomen revealed uterus, cervix, and upper part of the vagina are absent, and an ectopic left kidney.

Introduction: Rokitansky syndrome or Mayer Rokitansky Kuster Hauser (SRKMH) is a rare congenital malformation defined by uterovaginal aplasia. The aim of the treatment is to create a neovagina and restore sexual life. However, postoperative results in terms of sexual and overall quality of life of patients remain controversial., Aim: To evaluate the quality of life and sexuality of patients operated on for Rokitansky syndrome., Methods: This was a retrospective and comparative study between two groups of patients. The first group consisted of patients who had undergone vaginoplasty as part of SRKMH. The second group was that of the controls. Control in terms of sexual function by the Ar FSFI (Arab FemaleSexualFunction Index) and quality of life by the SF36 (Short Forms Health Survey) were used in both groups., Results: The average age of patients operated on for SRKMH was 22.53 years. Eighteen of these patients (60%) were sexually active at the time of the study. Patients operated on for SRKMH had a significantly lower Ar FSFI score compared to the control group. The two areas most affected were lubrication and pain. Likewise, patients who underwent vaginoplasty had a significantly lower SF 36 score compared to the control group. The psychological component was the most affected of the different components of quality of life., Conclusion: Sexual function and quality of life after vaginoplasty in the context of Rokitansky syndrome remains unsatisfactory despite the anatomical result.

Abstract: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) also known as Müllerian agenesis, is caused by embryologic underdevelopment of the Mullerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients usually present with primary amenorrhea with normal growth and pubertal development. Here we present a case of a 29-year-old woman presented with primary amenorrhea. Secondary sexual characteristics and hormone evaluation were normal. Ultrasound and MRI were conducted and revealed complete absence of uterus, small vaginal canal. Bilateral renal fossa were empty and both the kidneys were located in the pelvic cavity fused to one-another with single renal pelvis giving pancake appearance.

Introduction: Menstruation is a developmental milestone and usually marks healthy and normal pubertal changes in females. Menarche refers to the onset of first menstruation in a female. The causes of primary amenorrhea include outflow tract abnormalities, resistant endometrium, primary ovarian insufficiency, and disorders of the hypothalamus, pituitary, or other endocrine glands. A rare variant of mullerian agenesis, which warrants an individualized approach to management, is presented here., Case Report: We present here the case of a 25-year-old Indian female with pain in the lower abdomen and primary amenorrhea. After a thorough history, clinical examination, imaging, and diagnostic laparoscopy, two small uteri, a blind upper half vagina, bilateral polycystic ovaries, and a blind transverse connection between the two uteri-a horseshoe band cervix-were detected, which confirmed the diagnosis of mullerian agenesis. There was evidence of adenomyosis in the mullerian duct element. This is a rare form of Müllerian abnormality with an unusual presentation., Conclusion: Mullerian agenesis is the most common cause of primary amenorrhea with well-developed secondary sexual characteristics. There are various forms of mullerian agenesis. Most of the cases are managed by a multidisciplinary team. Rare variants warrant an individualized approach to management., (© 2024. The Author(s).)

Background: In the past, the primary treatment for MRKH syndrome (Mayer-Rokitansky-Küster-Hauser syndrome) with a functional primordial uterus was surgical removal of the functional primordial uterus. In rare instances, the endometrium of the functional primordial uterus is well developed, and surgical preservation of the functional primordial uterus provides the possibility of preserving reproductive function for these patients., Case Presentation: A 14-year-old female was diagnosed with type I MRKH syndrome with a functional primordial uterus through physical examination and imaging investigations. We freed the functional primordial uterus through laparoscopic surgery and excised a portion of the lower myometrium to create an outlet at a lower uterine segment, which we then intermittently anastomosed to the tip of the artificial vagina. The patient recovered well after the surgery, and a re-examination showed no significant abnormalities., Conclusion: We were successful in preserving the functional primordial uterus using laparoscopic surgery in a patient with MRKH syndrome and connecting it to an artificial vagina through reconstructive surgery to ensure unobstructed menstrual drainage and preserve the reproductive potential of the patient., (© 2023. The Author(s).)

Objective: In patients with Rokitansky syndrome, vaginal agenesis can be treated using various surgical techniques, and various factors can affect each surgery outcome in the long term. This meta-analysis aimed to evaluate sexual function outcomes in patients with Rokitansky syndrome after various surgery techniques., Data Sources: Searches were conducted in Google Scholar, PubMed, Cochrane database, ScienceDirect, Web of Science, and ClinicalTrials.gov. Systematic searches were conducted on studies published until November 2022 (CRD42022370735)., Methods of Study Selection: During the first stage of database scanning and reference check, 1820 results were identified, and an evaluation of the total 10 studies was finally conducted. The inclusion criteria involved selecting randomized controlled trials that focused on assessing sexual function after surgical treatment in patients of all ages with Rokitansky syndrome., Tabulation, Integration, and Results: EndNote version 20 software was used to organize and identify duplicate articles through screening. The Joanna Briggs Institute's critical appraisal tool was used to evaluate each study's quality for bias potential. The results showed that the total scores of female sexual functions in patients with Rokitansky syndrome after vaginoplasty were significantly lower than in healthy women (standardized mean difference, -0.233; p <.05; range, -0.376 to -0.090). The 6-domain analysis of the Female Sexual Function Index questionnaire revealed that lubrication (p <.05) and satisfaction (p <.05) were significantly lower in patients undergoing vaginoplasty., Conclusion: All surgical techniques to create a neovagina for patients with Rokitansky syndrome have successfully affected the sexual function outcomes. Considering all other factors affecting sexual function outcomes in the long term, more quantitative and qualitative studies are needed to assess sexual satisfaction in patients treated with surgical techniques., (Copyright © 2023 AAGL. Published by Elsevier Inc. All rights reserved.)

Uterine transplantation (UT) is an emerging medical treatment for women affected by absolute uterine factor infertility (AUFI). To date there have been over 90 documented cases of UT performed worldwide, with over 50 live births. UT allows women affected by AUFI the opportunity to carry and deliver a childd. The Royal Prince Alfred Hospital (RPAH) introduced a UT study in 2019; however, due to the impacts of the COVID pandemic the study was placed on hold for two years. In February 2023, RPAH performed the centre's first UT from a living unrelated donor to a 25-year-old woman with Mayer-Rokitansky-Küster-Hauser syndrome. The donor and recipient surgeries were uncomplicated and both are recovering well in the early post-operative period., (© 2023 Royal Australian and New Zealand College of Obstetricians and Gynaecologists.)

Sex development relies on the sex-specific action of gene networks to differentiate the bipotential gonads of the growing fetus into testis or ovaries, followed by the differentiation of internal and external genitalia depending on the presence or absence of hormones. Differences in sex development (DSD) arise from congenital alterations during any of these processes, and are classified depending on sex chromosomal constitution as sex chromosome DSD, 46,XY DSD or 46,XX DSD. Understanding the genetics and embryology of typical and atypical sex development is essential for diagnosing, treating and managing DSD. Advances have been made in understanding the genetic causes of DSD over the past 10 years, especially for 46,XY DSD. Additional information is required to better understand ovarian and female development and to identify further genetic causes of 46,XX DSD, besides congenital adrenal hyperplasia. Ongoing research is focused on the discovery of further genes related to typical and atypical sex development and, therefore, on improving diagnosis of DSD., (© 2023. Springer Nature Limited.)

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a condition caused by Müllerian anomalies, is characterised by congenital vaginal aplasia and a rudimentary uterus. Case reports concerning uterine fibroids associated with MRKH syndrome are limited, and differentiating between uterine fibroids and ovarian solid tumours prior to surgical intervention is often challenging. Here, we present the case of a patient with MRKH syndrome and asymptomatic bilateral pelvic solid tumours located close to both ovaries. Based on intraoperative and histopathological findings, the tumours were diagnosed as adenomyomas of the rudimentary uterus. This is the first reported case of a uterine adenomyoma associated with MRKH syndrome. Moreover, our report highlights the fact that diagnostic laparoscopy is a valuable method to evaluate pelvic tumours in MRKH syndrome., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Mayer-Rokitansky-Kuster-Hauser Syndrome is a rare condition in which Müllerian system does not develop and ends up with rudimentary upper vagina and the uterus. As compared to normal physiology of the ovaries and puberty, the patients present with primary amenorrhoea a key clinical symptom. However, the exact aetiology of the disease is still unknown. A few reports considered environmental and epigenetic changes, hormonal imbalance, and cellular receptor abnormalities as possible risk factors associated with the disease. This case was reported at the Department of Family Medicine, The Indus Hospital, Karachi. A 24-year-old woman, married for eight months, presented with primary amenorrhoea and painful intercourse. Upon detailed clinical evaluation and relevant radiological and diagnostic investigation, an assessment, of Mayer-Rokitansky syndrome was made.

Background: Women with Mullerian agenesis, also known as Mayer-Rokitansky-Küster-Hauser syndrome (MRKH), have aplasia or hypoplasia of the uterus and vagina. Regular use of dilators can successfully create a functional vagina in up to 95% of cases. We present 3 women with Mullerian agenesis who failed dilation therapy due to pain and were subsequently found to have hymenal anomalies., Cases: Patients presented at age 16 or 17 to initiate dilation. Initial attempts were discontinued due to pain. On examination, a septate hymen was identified in 2 patients and a microperforate hymen in 1 patient. All patients underwent hymenectomy and thereafter continued dilation with less discomfort., Summary and Conclusion: These cases illustrate the importance of recognizing and treating hymenal anomalies in women with Mullerian agenesis to prevent pain, leading to unsuccessful dilation., Competing Interests: Declaration of Competing Interests The authors have no conflicts of interest., (Copyright © 2022. Published by Elsevier Inc.)

Background: Differences of sex development (DSD) are congenital conditions linked to atypical development of chromosomal, gonadal, or anatomical sex., Objective: The aim of this study was to demonstrate our experiences at the Diabetes Endocrine and Metabolism Pediatric Unit (DEMPU), Faculty of Medicine, Cairo University in the field of DSD by focusing on the clinical presentation, laboratory profile, classification, and etiological diagnosis of these conditions. In addition, the present study intended to delineate the importance of serum anti-Müllerian hormone (AMH) and inhibin B in detecting the presence of functioning testicular tissue., Methods: This cohort study included 451 infants and children with various clinical presentations of DSD. The study performed a retrospective analysis on medical records of established DSD cases to evaluate the clinical importance of AMH and inhibin B. In addition, newly diagnosed patients were prospectively analyzed., Results: Three hundred thirty-six (74.5%) patients were 46,XY DSD, 98 (21.7%) were 46,XX DSD, 14 patients had other karyotypes and 3 had missing karyotypes. Among the 46XY DSD patients, the most common cause was partial androgen insensitivity. In contrast, congenital adrenal hyperplasia constituted the most common diagnosis in 46,XX DSD cases. The cut off value of serum AMH was 14.5 ng/ml with 100% sensitivity and 55.1% specificity., Conclusion: Partial androgen insensitivity was the most important cause of 46,XY DSD in Egyptian children, and congenital adrenal hyperplasia was the most common cause of 46,XX DSD. AMH was valuable in detecting functioning testicular tissue., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Abdelghaffar, AbdelMoneam, Hassanein, Radwan and Mira.)

Congenital pouch colon is an uncommon anomaly worldwide and is usually associated with anorectal malformations. Imperforate anus with a large air fluid level on the abdominal x ray suggests the diagnosis. Most cases are diagnosed in neonates and an early management limit complications. Few studies have documented the histopathological features of congenital pouch colon., We present two cases with varied associated anomalies (Case 1 with rectovesical fistula, Case 2 with Mayer Rokitansky Kuster Hauser syndrome) and their histopathological features. Immunohistochemistry for calretinin showed paucity of ganglion cells and intrinsic fibers with occasional punctate positivity. The c-Kit immunostain documented fewer interstitial cells of Cajal. Cystitis glandularis with intestinal metaplasia (Case 1) and an additional muscle layer (Case 2) are described., These novel histopathological features characterize the entity further and may be related to genesis of the pouch and its clinical manifestations.

Background: This study was performed to evaluate etiologies and secular trends in primary amenorrhea in South Korea., Methods: This retrospective multi-center study analyzed 856 women who were diagnosed with primary amenorrhea between 2000 and 2016. Clinical characteristics were compared according to categories of amenorrhea (hypergonadotropic/hypogonadotropic hypogonadism, eugonadism, disorders of sex development) or specific causes of primary amenorrhea. In addition, we assessed secular trends of etiology and developmental status based on the year of diagnosis., Results: The most frequent etiology was eugonadism (39.8%). Among specific causes, Müllerian agenesis was most common (26.2%), followed by gonadal dysgenesis (22.4%). Women with hypergonadotropic hypogonadism were more likely to have lower height and weight, compared to other categories. In addition, the proportion of cases with iatrogenic or unknown causes increased significantly in hypergonadotropic hypogonadism category, but overall, no significant secular trends were detected according to etiology. The proportion of anovulation including polycystic ovarian syndrome increased with time, but the change did not reach statistical significance., Conclusion: The results of this study provide useful clinical insight on the etiology and secular trends of primary amenorrhea. Further large-scale, prospective studies are necessary., Competing Interests: The authors have no potential conflicts of interest to disclose., (© 2022 The Korean Academy of Medical Sciences.)

Background: We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with precocious puberty and one with growth hormone deficiency (GHD. Our five children add to the growing endocrine data base of MRKHS., Case Presentation: We retrospectively reviewed clinical data of 5 MRKHS patients from 2017 to 2020. The clinical features, hormonal profiles, radiological imaging and genetic analyses were collated. The age range of the 5 patients at diagnosis was 6.7-9.1 years. Four presented with premature thelarche, and one presented with short stature. External genitalia were normal in all patients. Gonadotropin-releasing hormone stimulation tests for the 5 patients revealed peak luteinizing hormone and follicular stimulating hormone levels of 3.57, 6.24, 11.5, 4.44 and 4.97 IU/L and 9.41, 16.7, 13.8, 14.2 and 10.3 mIU/mL, respectively. Growth hormone stimulation for one patient with short stature was consistent with GHD with a peak level of GH was 7.30 ng/mL. Imaging disclosed advanced bone age in four patients and no skeletal abnormalities in any of the patients. Ultrasonography of the abdomen revealed bilateral polycystic kidneys in one patient. Pelvic magnetic resonance imaging confirmed no uterus in five patients. All of the patients had a normal karyotype (46, XX). In one patient, whole-exome sequencing detected a deletion of 17q12(chr17:36,046,434-36,105,050, hg19) encompassing the HNF1B gene., Conclusions: We report the unusual co-occurrence of precocious puberty and GHD in patients with MRKHS, highlighting that abnormal puberty and growth development may represent initial unexplained manifestations. Whether the deletion of 17q 22 begat GHD is unclear., (© 2022. The Author(s).)

Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, as congenital anomaly of the female reproductive tract, is characterized by the congenital absence of uterus and vagina. Dilation maneuver was recommended as the nonsurgical treatment for these patients. However, only several cases were reported depicting the prolapse of the dilated neovagina of patients with MRKH syndrome., Case: We report our own experiences in treating 2 patients with neovaginal prolapse MRKH syndrome receiving ischial spinous fascia fixation (ISFF) and reviewed neovaginal prolapse occurrence in MRKH syndrome. In our approach to evaluating the anatomic and functional outcome after operation, we compared the prolapse stage with Pelvic Organ Prolapse Quantification score and analyzed sexual activities by the standardized Female Sexual Function Index 1 (FSFI) and Modified Body Image Scale 2 (MBIS)., Summary and Conclusion: Both subjective and objective improvement were observed in these 2 patients., (Copyright © 2021. Published by Elsevier Inc.)

Background: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by underdevelopment of the uterus and vagina., Case: A 4-year-old girl was declared dead on arrival to the hospital with a history of chronic constipation since birth. Postmortem examination showed Müllerian remnants attached to abnormal fibrous tissue. The fibrous tissue extended from the descending colon to the rectum and connected to a urinary bladder duplication cyst. The fibrous tissue formed into a constricted band around the rectum. The cause of death was Streptococcus pyogenes sepsis with intestinal obstruction secondary to the rectal fibrotic band and urinary bladder duplication cyst., Summary and Conclusion: MRKH syndrome is a rare congenital disorder, and the malformations rarely cause death. We describe the features of abnormal fibrous tissue and urinary bladder duplication cyst in a patient with MRKH syndrome., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Mayer-Rokitansky -Küster -Hauser syndrome (MRKH) is a rare cause of primary amenorrhea. It is defined as congenital aplasia of the uterus and of the upper two thirds of the vagina in women with normal development of secondary sexual characteristics. Diagnosis is essentially based on magnetic resonance imaging (MRI). We here report the case of a 17-year-old girl presenting with primary amenorrhea with well developed secondary sexual characteristics. Laboratory tests revealed normal ovarian function as well as gonadotropic axis. Pelvic ultrasonography and magnetic resonance imaging revealed complete uterine agenesis of the uterus, the upper two-thirds of the vagina and left kidney, allowing to confirm the diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome type II. This study highlights the importance of suspecting MRKH in young patients with well-developed sexual characteristics and any type of primary amenorrhea as well as of performing MRI in order to detect any specific sign of this disorder., Competing Interests: Les auteurs ne déclarent aucun conflit d'intérêts., (Copyright: Mohamed Abdellaoui et al.)

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of uterus and upper part of vagina) alone (type 1), or associated with abnormalities of other organs and systems (type 2). We report a case of a 21-year-old woman diagnosed with MRKH due to primary amenorrhea during puberty and operated for formation of neovagina. She was admitted to the Department of Urology with abdominal pain and oligoanuria, where the physical examination and imaging studies revealed a malformation of the upper urinary tract: a solitary dystopia of kidney in the pelvis with stenosis of ureteropelvic junction and hydronephrosis. After initial desobstruction with a DJ stent, a pyeloplasty was performed. Females with primary amenorrhea are often delayed with the diagnosis of potential MRKH syndrome, and those diagnosed with the syndrome should undergo detailed examination to exclude concomitant urinary abnormalities., (This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Background: Inguinal hernia containing ovary and fallopian tube can be found in paediatric population and is a rare finding in women of reproductive age group. Most of the cases are associated with congenital abnormalities of the female genital tract., Case Presentation: A 20 year old female presented with right reducible inguinal hernia, primary amenorrhea and normal secondary sexual characteristics. Clinical examination revealed scoliosis with convexity towards left side, prominence of left rib cage with Sprengel deformity and right sided heart sounds. Ultrasound of the inguinal swelling revealed right ovary within the hernial sac, Chest X-ray revealed right lung collapse and dextrocardia. Further Magnetic resonance imaging (MRI) of pelvis revealed inguinal hernia with right ovary as its content, normal left ovary and absent uterus. Computed tomography (CT) revealed complete collapse of right lung with compensatory left lung hyperinflation and absent right kidney. Karyotyping of the patient was normal, 46XX. A diagnosis of MURCS syndrome with right ovarian hernia was made. The hernia was surgically managed with repositioning of ovary and fallopian tube into the pelvis., Discussion: Ovary in inguinal hernia is rare in women of reproductive age group. MRKH syndrome, a mullerian duct anomaly, is the congenital aplasia of uterus and upper two-thirds of vagina in a female with normal ovaries, fallopian tube, secondary sexual characteristics and 46XX karyotype. MURCS is a subtype of MRKH type 2 having mullerian duct agenesis with renal, cardiac, muscular & vertebral defects. General physical examination and primary investigations if yields abnormal findings; the patient must undergo an array of investigations to rule out MRKH/MURCS, or other congenital abnormality. Early diagnosis is essential to prevent its incarceration or torsion. The primary treatment of ovary in inguinal hernia is repositioning the ovary and fallopian tube back to pelvis to preserve fertility and repair of inguinal hernia. A multidisciplinary team is required to deal with various abnormalities present in a patient with MURCS., (© 2021. The Author(s).)

Objective: To reveal the proportion of concomitant extragenital malformations in a large cohort of Chinese patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome., Study Design: Retrospective study., Setting: Tertiary teaching hospitals in China., Patient(s): A total of 1,055 Chinese Han women with MRKH syndrome diagnosed and treated at 11 Chinese tertiary teaching hospitals from January 2015 to January 2020., Intervention(s): Karyotype analysis, hormone profiling, pelvic ultrasonography, spinal roentgenograms, urologic ultrasonography, and Chinese female reproductive tract malformation registry platform (https://ecrf.linklab.com/)., Main Outcome Measure(s): Patients' demographic and clinical characteristics, concurrent malformations, and family histories., Result(s): Of the 1,055 Chinese Han patients with MRKH, 69.6% had type I MRKH syndrome and the remaining 30.4% had type II MRKH syndrome. Among the type II patients, 12.6% had müllerian duct aplasia, unilateral renal aplasia/ectopic kidney, and cervicothoracic somite dysplasia association. Skeletal malformations were the most common associated extragenital malformations in the study (22.0%, 232/1,055), of which idiopathic scoliosis and congenital vertebral malformations were the 2 main skeletal malformations (80.6% and 14.2%, respectively). Renal malformations were the second-highest associated extragenital malformations (9.7%, 102/1,055), with unilateral renal agenesis and ectopic kidney being the most common renal malformations (48.0% and 22.5%, respectively)., Conclusion(s): Type II disease was less common among Chinese patients with MRKH syndrome compared with European patients. Skeletal malformations were more common extragenital malformations than renal malformations in our cohort., (Copyright © 2021. Published by Elsevier Inc.)

Background: The clinical pregnancy rates among patients with uterus transplantation have been reported by only a limited number of centers, and those centers have not used preimplantation genetic testing for aneuploidy in their protocol., Objective: This study examined clinical pregnancy rates among women with absolute uterine-factor infertility undergoing in vitro fertilization using good-quality, expanded-blastocyst-stage, euploid embryos after uterus transplantation., Study Design: This cohort observational study involved 20 women who underwent uterus transplantation over 3 years. Notably, 14 of these patients had successful transplants and were followed prospectively for a median of 14.1 months (range, 11-34.8 months). In vitro fertilization was performed before subjects underwent uterus transplantation, and good-quality expanded-blastocyst-stage euploid embryos were obtained and frozen for future embryo transfer. Interventions consisted of in vitro fertilization, preimplantation genetic testing for aneuploidy, uterus transplantation, and frozen embryo transfer., Results: All 14 subjects with successful transplants underwent single embryo transfer of a warmed, good-quality, euploid, expanded blastocyst and had at least 1 documented clinical pregnancy within the uterus. In 71.4%, the first embryo transfer resulted in clinical pregnancy. The median time from successful uterus transplantation to first embryo transfer was 4.5 months; from successful uterus transplantation to first clinical pregnancy, 7.3 months; and from successful uterus transplantation to first live birth, 14.1 months. A total of 13 live births have occurred in 12 subjects., Conclusion: Women with absolute uterine-factor infertility who have surgically successful uterus transplantation and in vitro fertilization using preimplantation genetic testing for aneuploidy can achieve high clinical pregnancy rates. We have reduced the time interval from uterus transplantation to embryo transfer by at least 50% and the interval from uterus transplantation to clinical pregnancy by >6 months compared with previous studies. We believe our approach may shorten the time from transplant to clinical pregnancy and therefore decrease patient exposure to immunosuppressant therapies., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Objective: To introduce the minimally invasive Vecchietti procedure based on single-port laparoscopy with self-made surgical instruments for the surgical management of Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)., Design: Surgical video article. The approval of the Institutional Review Board and written consent from the patient were obtained., Setting: University hospital., Patient(s): A 22-year-old woman presented with primary amenorrhea and inability to participate in penetrative sexual intercourse. A gynecological examination revealed a phenotypically normal vulva and absence of the vagina. A normal 46,XX karyotype was expressed. Magnetic resonance imaging and ultrasonic imaging of the abdomen and pelvis indicated that the ovaries were normal in size and there was vaginal agenesis with rudimentary uterus. No other congenital malformations were present., Intervention(s): The modified Vecchietti procedure involved a transvaginal operation and laparoscopic surgery. The epidural catheter was stretched and made into two wires that were tucked into the core of the Veress needle and then folded into four strings for perineal puncture. A transverse incision of about 3 cm was made in the center of the navel, layer by layer into the abdomen, and placed in a self-made single port (made of a small wound protector and an 8-inch glove), introducing the laparoscope. Under laparoscopic surveillance, the Veress needle was inserted through the vesicorectal space guided by the index finger, which was placed in the rectum. The epidural catheter was pumped from the core into the abdominal cavity under laparoscopy. Subsequently, cystoscopy was performed to ensure that no bladder perforation occurred during the needle insertion. The ball-shaped acrylic device and the two rubber stoppers were attached to the epidural catheter of the vulva. An epidural puncture needle with wire perforated the peritoneum through McBurney's point and the opposite McBurney's point, pulling the epidural catheter out of the abdominal cavity. The epidural catheter was curled around the gauze rolls until the ball-shaped device could be accommodated into the newly created cavity at a sufficient depth. After the surgery, the top of neovagina was lifted about 1 cm every day by tightening gauze rolls to increase the traction, until a neovagina 9 cm long was achieved., Main Outcome Measure(s): The clinical and anatomical data such as the operative time, intraoperative bleeding, duration of hospitalization, and measurement of the final length of the newly created canal 30 days after surgery and 3 months after surgery., Result(s): The operative time was 30 minutes, and the intraoperative blood loss was 10 mL. The duration of hospitalization was 10 days. Before discharge, the vaginal depth was 9 cm at 5 days after the surgery, and the self-made traction system was removed. A plastic mold was then inserted using povidone-iodine. The vaginal dilator had to be worn day and night. The patient was advised to sit at the corner of a hard bed or chair from time to time to enhance the dilated effect of the vaginal mold. Three months after the surgery, it could be worn each night until regular sexual intercourse was initiated. The canal length 30 days and 3 months after the surgery was nearly 9 cm., Conclusion(s): The modified Vecchietti vaginoplasty is a simple, safe, cost-effective, and minimally invasive procedure, offering an anatomic and functional neovagina for MRKH patients., (Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved.)

Background: Nulliparous uterine grafts have never been used in uterus transplantation (UTx), possibly due to presumed infertility. Our objective was to verify the feasibility of nulliparous uterine graft transplantation., Methods: The Czech Uterus Transplant Trial (registered under ClinicalTrials.gov, identifier NCT03277430) is a 2-arm trial comparing the efficacy of deceased donor (DD) versus live-donor uterus transplant (10 patients in both arms). A 25-year-old patient suffering from inborn absolute uterine factor infertility underwent a DD uterus transplant. The donor was a 20-year-old nulliparous brain-dead donor., Results: The transplant procedure was uneventful. The posttransplant period was complicated by (1) recurrent episodes of acute cellular rejection, (2) neutropenia necessitating the administration of granulocyte colony-stimulating factor, (3) vaginal anastomotic stenosis treated with the insertion of a self-expanding stent, (4) the concurrence of Clostridium difficile colitis and acute appendicitis, and (5) temporary renal function impairment of a combined cause. Two years after the UTx, after the fourth embryo transfer, the patient became pregnant. Apart from gestational diabetes mellitus, the pregnancy was uneventful. Due to preterm contractions, delivery was achieved via caesarean section at gestational age 34 + 6 years. The postoperative course was uneventful for both the mother and the newborn., Conclusions: Herein, we report the first live birth after a DD UTx in Europe. This report provides a proof of concept that nulliparous uteri may present a suitable source of uterine grafts for UTx. Stenting may serve as a feasible treatment method for vaginal anastomotic stenosis., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Structural anomalies of the female reproductive tract, known as Mullerian anomalies, can occur in isolation or in association with anomalies of other organ systems. Due to shared embryology, the most common association in up to 40% of patients is with renal, ureteral, and bladder anomalies. Affected girls can have a wide range of genitourinary symptoms with urologists playing an integral role in their diagnosis and treatment. To facilitate the recognition and management of these conditions, we provide a review of Mullerian anomalies including the embryology, classifications, syndromes, evaluation, and treatments with attention to their urologic applicability., (Copyright © 2020 Elsevier Inc. All rights reserved.)

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a spectrum of anomalies arising from incomplete development of the Müllerian ducts, is characterised by congenital aplasia of the uterus and upper part of the vagina, often in the absence of other phenotypical abnormalities. We report the case of a 13-year-old girl referred to our endocrinology unit after an incidental finding of uterine agenesis during laparoscopy to correct suspected ovarian torsion. Initial transabdominal ultrasonography found no uterus. Given her normal secondary sex characteristics, karyotype and hormone profile, MRKH syndrome was initially diagnosed. However, after vaginal bleeding compatible with menstruation, repeat transabdominal ultrasonography and MRI revealed a left-deviated unicornuate uterus., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: To describe the treatments of a patient using the laparoscopic Davydov's method for Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and ureteral reimplantation for hydronephrosis and hydroureter., Design: Surgical video article. A consent form from the patient was obtained as appropriate; the nature of the study did not necessitate ethics committee approval. There were no conflicts of interest., Setting: University hospital., Patient(s): A 28-year-old woman who presented at our gynecology department with the symptoms of primary amenorrhea and difficult intercourse. She had repaired congenital rectovestibular fistula and imperforate anus at the age of 8. At physical examination, she had a phenotypically normal vulva with a vaginal small pouch (0.5 cm). Magnetic resonance imaging of the pelvis revealed normal ovaries, a primordial uterus, absence of vaginal canal, and a 4.0 × 4.2 × 4.0 cm cystic structure posterior to the bladder. Magnetic resonance urography showed right to left renal crossed-ectopia with inferior fusion, and hydronephrosis and hydroureter from the superior kidney with Grade Ⅳ vesicoureteral reflux. Karyotype was 46, XX., Intervention(s): Saline solution 300 mL was injected into the rectovesical space with an infusion of diluted adrenaline (1:200,000). The goal of this injection was to aid in the identification of tissue planes and reduce blood loss. The space between urethra/bladder and rectum progressively was dissected. Blunt dissection was performed initially with digital separation of tissues. Then, an 8-cm-long neovaginal vault of about 3 cm in diameter was created. The mobilized peritoneum was pulled downward with eight Vicryl sutures and connected to the vaginal epithelium. By cystoscope, we found the left orifice but could not find the right orifice of the hydroureter. Then we ligated the hydroureter by 2-0 absorbable suture near the cyst and cut off the hydroureter, and then incised of all the layers at the top of the bladder to make a bladder flap. We placed the 5 Fr double J stent in the hydroureter and the bladder and anastomozed with the ureteral stump (3-0 Vicryl). Then we removed the cyst laparoscopically. We performed a purse-string stitch to create the apex of the neovagina by taking posterior serosa of the bladder, the pelvic peritoneum between the ovary and rectum, primordial uterus, and anterior rectal serosa., Main Outcome Measure(s): Measurement of the final canal length, sexual function (Female Sexual Function Index), and degree of hydronephrosis., Result(s): Three days later, we started to change the vaginal mold and the patient was advised to wear it day and night for the first postoperative month. The vaginal mold had to be worn each night until normal sexual intercourse was possible. Findings confirmed the cyst was Gartner's duct cyst. One year after the surgery, the final canal length was 9 cm and Female Sexual Function Index score was 28. The ultrasound showed that the degree of hydronephrosis of upper moiety was mild., Conclusion(s): The distal Wolffian ducts in the female are absorbed but may persist as vestigial remnants (Gartner's duct cysts). A few cases of the combined urogenital-Wolffian anomalies are reported; most of them are associated with the anomalies of müllerian duct fusion, such as Herlyn-Werner-Wunderlich syndrome (uterus didelphys, obstructed hemivagina, and mesonephric duct anomalies). The embryogenesis of the combined anomalies is not completely understood. With comprehensive preoperative assessments, laparoscopic surgery could be a safe and effective treatment to these cases., (Copyright © 2020 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Various methods have been described to treat neovaginal prolapse in patients with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. In this case report, we describe neovaginal prolapse of a 21-year-old patient with MRKH syndrome which had been created by sexual intercourse dilation. Herein, the laparoscopic lateral suspension was performed for the surgical correction of neovaginal prolapse which is not available in the literature as far as we search. Prolapse was successfully corrected and vaginal length was provided at a sufficient length of 7 cm. Since after 1-year of operation, she has remained satisfied with her surgical outcome anatomically, sexually and psychologically. Laparoscopic lateral suspension is a safe and effective treatment in a patient who has neovaginal prolapse with MRKH syndrome and also can be used as a potentially alternative management in the treatment of neovaginal prolapse in patients with MRKH syndrome., (© 2020 Japan Society of Obstetrics and Gynecology.)

Background: To date, only 23 cases of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with duplex kidney have been reported. We present the first reported case of MRKH syndrome with solitary duplex kidney and anal stenosis., Case: A 17-year-old Chinese girl presented with primary amenorrhea and fully developed secondary sex characteristics. Ultrasonography of the abdomen and pelvis revealed the absence of the right kidney, a left duplex kidney, and a primordial uterus. Surgery for anal stenosis was performed when she was 1 year of age. The patient had a normal 46, XX karyotype., (Copyright © 2021 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

Introduction: Lower urinary tract symptoms (LUTS) in subjects with Mayer-Rokitansky-Küster-Hauser syndrome treated by Davydov's laparoscopic neo-vaginoplasty were measured., Methods: Davydov's laparoscopic neo-vaginoplasty was undertaken at the Department of Obstetrics/gynecology, San Raffaele Hospital, Milan, Italy, from November 2015 to July 2017, by two highly qualified surgeons. All women completed the ICIQ-UI Short Form questionnaire before and after treatment. LUTS were scored at recruitment, hospitalization, and 1, 3, 6 and 12 months after surgery., Results: Twenty-one women (mean age 21 years ± 5.9) were operated on with no major complications. Mean surgery duration was 79 min (± 55 min). Before the operation, one patient (1/21; 4.8%) reported occasional urinary loss that persisted after surgery and throughout 12 months of follow-up. After the operation, one patient (1/21; 4.8%) had urinary retention, requiring self-catheterization for 2 weeks. One month after surgery, stress incontinence was recorded in one case (1/19; 5.2%) and urge incontinence in two cases (2/19; 10.5%). At 3-month follow-up, these three patients were free of symptoms., Conclusion: The rate of LUTS is lower than that reported by others using alternative surgical procedures. To the best of our knowledge, this is the first report validating LUTS after Davydov's neo-vaginoplasty.

Several recurrent malformation associations affecting the development of the embryo have been described in which a genetic etiology has not been found, including LBWC, MURCS, OAVS, OEIS, POC, VACTERL, referred to here as "recurrent constellations of embryonic malformations" (RCEM). All are characterized by an excess of reported monozygotic discordant twins and lack of familial recurrence. We performed a comprehensive review of published twin data across all six phenotypes to allow a more robust assessment of the association with twinning and potential embryologic timing of a disruptive event. We recorded the type of twinning, any overlapping features of another RCEM, maternal characteristics, and the use of ART. Statistically significant associations included an excess of monozygotic twins and 80% discordance rate for the phenotype across all twins. There was an 18.5% rate of ART and no consistently reported maternal adverse events during pregnancy. We found 24 instances of co-occurrence of two RCEM, suggesting a shared pathogenesis across all RCEM phenotypes. We hypothesize the following timing for RCEM phenotypes from the earliest perturbation in development to the latest: LBWC, POC, OEIS, VACTERL, OAVS, then MURCS. The RCEM group of conditions should be considered a spectrum that could be studied as a group., (© 2020 Wiley Periodicals LLC.)

Background: Most patients with congenital uterus and vaginal aplasia (i.e., Mayer-Rokitansky-Kuster-Hauser [MRKH] syndrome) have rudimentary pelvic uterine structures that contain smooth muscle. Although leiomyomas and dysplasia of vaginal mucosa are relatively common in the general population, they are rare in MRKH patients. Data on the vulnerability of neovaginas to HPV-associated dysplasia are limited., Case Presentation: A rare case of an MRKH patient with two gynaecological conditions detected during long-term gynaecological follow-up is presented. At the age of 21, the patient was treated for HPV-associated neovaginal dysplasia. At the age of 47, a pelvic leiomyoma was detected with transvaginal ultrasound and confirmed with magnetic resonance imaging., Conclusion: A Pap smear or human papillomavirus testing is indicated in sexually active MRKH women. Uterine rudiments contain smooth muscle, which facilitates the development of oestrogen-dependent diseases, such as leiomyomas and adenomyosis. Although magnetic resonance imaging is recommended in cases of a pelvic mass, easily attainable and cost-efficient transvaginal ultrasound offers high diagnostic accuracy in patients with a surgically created neovagina and is suitable for the patients' follow-up. Guidelines for the gynaecological follow-up of MRKH patients are warranted.

Background and Objectives: The Mayer-Rokitansky-Küster-Hauser syndrome is a congenital condition in which patients are born with vaginal and uterus agenesis, affecting the ability to have a normal sexual life and to bear children. Vaginal reconstruction is a challenging procedure for plastic surgeons. The aim of this study is to report our experience in the management of twelve patients with congenital absence of the vagina due to the MRKH syndrome. Materials and Methods: We performed a retrospective study on 12 patients admitted to the Plastic Surgery Department of the Clinical Emergency Hospital "Prof. Dr. Agrippa Ionescu", Bucharest, Romania, for vaginal reconstruction within a period of eleven years (January 2009-December 2019). All patients were diagnosed by the gynaecologists with vaginal agenesis, as part of the Mayer-Rokitansky-Küster-Hauser syndrome. The Abbe'-McIndoe technique with an autologous skin graft was performed in all cases. Results: The average age of our patients was 20.16 (16-28) years. All patients were 46 XX. The average surgical timing was 3.05 h (range 2.85-4h). Postoperative rectovaginal fistula was encountered in 1 patient. Postoperative average vaginal length was 10.4 cm (range 9.8-12.1 cm). Regular sexual life was achieved in 10 patients. Conclusion: Nowadays, there is no established standard method of vaginal reconstruction. In Romania, the McIndoe technique is the most applied. Unfortunately, even if the MRKH syndrome is not uncommon, less and less surgeons are willing to perform the procedure to create a neovagina.

Extrahepatic biliary duplication is a rare congenital biliary malformation, even more so when associated with heterotopic gastric mucosa. This case report highlights the difficulty of diagnosing such biliary abnormalities, in particular when the duplicated extrahepatic bile duct is the only structure visible by imaging as it is masking the common bile duct. This report shows that extrahepatic bile duct duplication may be a cause of chronic biliary obstruction and secondary sclerosing cholangitis. It has to be considered as a differential diagnosis of primary sclerosing cholangitis in children and adolescents. Furthermore, a potential link between the 46,XX karyotype and biliary duplication is discussed., (Copyright © 2020. Published by Elsevier Masson SAS.)

While uterus transplantation was once considered only a theoretical possibility for patients with uterine factor infertility, researchers have now developed methods of transplantation that have led to successful pregnancies with multiple children born to date. Because of the unique and significant nature of this type of research, it has been undertaken with collaboration not only with scientists and physicians but also with bioethicists, who paved the initial path for research of uterus transplantation to take place. As the science of uterus transplantation continues to advance, so too must the public dialogue among obstetrician/gynecologists, transplant surgeons, bioethicists, and other key stakeholders in defining the continued direction of research in addition to planning for the clinical implementation of uterus transplantation as a therapeutic option. Given the rapid advances in this field, the time has come to revisit the fundamental questions raised at the inception of uterus transplantation and, looking forward, determine the future of this approach given emerging data on the procedure's impact on individuals, families, and society., (Copyright © 2020. Published by Elsevier Inc.)

The cytochrome P450 17A1 catalyzes the formation of 17-hydroxysteroids and 17-ketosteroid. Most defects in CYP17A1 impair both enzymatic activities and cause a combined 17α-hydroxylase/17,20-lyase deficiency, which impairs hormone production (cortisol and sex steroids), sexual development, and puberty. Isolated 17,20-lyase deficiency is usually defined by evidently normal activity of 17α-hydroxylase with a dramatic decline of 17,20-lyase activity or complete inactivity. The changes in enzyme activity lead to a lack in the production of sex steroids with normal levels of glucocorticoid and mineralocorticoid hormones. A 24-years-old married woman, as a product of a consanguineous marriage, presented with infertility and a background marked by primary amenorrhea. Laboratory data showed low normal serum cortisol levels and low levels of 17-hydroxyprogesterone. Also, her adrenal androgens were low but estradiol was normal. The chromosomal investigation uncovered a male karyotype of 46, XY. These clinical and laboratory evidence confirm the determination of an isolated 17,20-lyase deficiency in a genotypic male.

Aromatase deficiency rarely causes a 46,XX sexual differentiation disorder. The CYP19A1 gene encodes the aromatase enzyme which catalyses the conversion of androgens to oestrogens. In cases with 46,XX karyotype, mutations in the CYP19A1 gene can lead to disorders of sex development. Clinical findings in aromatase deficiency vary depending on the degree of deficiency. The effect of increased androgens, including acne, cliteromegaly and hirsutism, can be observed in mothers with placental aromatase deficiency. A decrease in maternal virilisation symptoms is observable in the postpartum period. It is rarely reported that there is no virilization in pregnancy. In this study, two 46,XX sibling having the p.R115X (c.343 C>T) novel pathogenic variant in the CYP19A1 gene and raised as different genders, with no maternal virilisation during pregnancy, are presented. In conclusion, 46,XX virilised females should be examined in terms of aromatase deficiency once congenital adrenal hyperplasia has been excluded, even if there is no history of maternal virilisation during pregnancy.

This case discussion on urethral coitus in Mayer-Rokitansky-Küster-Hauser syndrome shows that this rare syndrome can have major physical and psychological consequences. Further consideration shows that a lack of common sense and a lack of action concerning sexual history-taking and careful vulvar examination is the reason that an iatrogenic sexual problem arose in this case. This was not the result of the initial denial of a rare diagnosis. Both attention to these aspects during training and supervision are necessary, since other disorders and medical treatments can also have a negative impact on sexuality.

Introduction: Patients with Mayer - Rokitansky - Küster - Hauser (MRKH) syndrome often experience chronic pelvic pain negatively impacting their life's quality. Our understanding of the factors involved in this symptom remains poor. The aim of our study was to further investigate the different components of this pelvic pain in patients with MRKH undergoing pelvic surgery. Our second objective was to assess the evolution of this pain in patients undergoing surgical removal of their uterine horn remnant., Material and Methods: We conducted a retrospective analysis of a cohort of patients treated in our tertiary referring gynaecological department. Patients included had a MRKH syndrome with at least one uterine horn remnant and all underwent at least one surgical procedure in our centre. Descriptive analysis of the main characteristics and of the management of these patients was conducted. Postoperative pain was evaluated using simple words and / or analgesic consumption evaluation., Results: Between 1991 and 2013, twenty-one patients were included in our centre. Out of them, 20 (95 %) had chronic pelvic pain, mostly cyclic pain lasting 2-3 days. Fourteen patients had surgical removal of their uterine horns remnant and only 3 patients (21 %) had persistent pain at their postoperative visit. Surgical findings included peritoneal endometriosis in 8 patients (38 %) and other unexpected findings in 6. At pathological analysis, secretary endometrium in the uterine horn remnant was found in 11 patients (79 %)., Conclusion: The origin of chronic pain in MRKH is combining several factors such as endometriosis or secretary endometrium. Surgical removal of uterine horn remnant improved most of our patients' pelvic chronic pain. Further studies should help improve our understanding of this specific entity., Competing Interests: Declaration of Competing Interests Prof C. Touboul occasionaly serve as a consultant for Astra Zeneca, AB Medica, Conmed and TBWA-Adelphi. The remaining authors have nothing to disclose., (Copyright © 2019. Published by Elsevier Masson SAS.)

Our objective was to provide a minimally invasive neovaginoplasty technique to construct a nearly physiologic vagina to facilitate sexual functioning and appropriate vaginal length in patients with congenital vaginal agenesis. This retrospective study at a tertiary care hospital comprised 52 patients with congenital vaginal agenesis because of Mayer-Rokitansky-Küster-Hauser syndrome or androgen insensitivity syndrome presented for vaginal reconstruction. Modified McIndoe vaginoplasty was done in all patients between 2010 and 2018 using a vaginal mold created with glove, nonadherent petroleum gauze, and Interceed absorbable adhesion barrier (Ethicon, Johnson & Johnson, Somerville, NJ) that was placed in the neovagina space created between the bladder and rectum for 7 days. Operative details, complications, length and width of the neovagina, and functional outcome were evaluated. The mean operation time was 35 minutes. The mean length of the constructed neovagina was 8.4 cm × 3.4 cm at 6 weeks follow-up. Epithelialization was completed by 4 to 6 months. All patients reported satisfactory sexual activity with no pain and good mucosal sensitivity. This modified neovaginoplasty technique is easy to perform, involves painless postoperative dilatations as the cornerstone of treatment, and results in adequate secretion, allowing lubrication and acceptable physiologic results., (Copyright © 2019 AAGL. Published by Elsevier Inc. All rights reserved.)

A diagnosis of congenital adrenal hyperplasia (CAH) in a '46, XX' newborn with ambiguous genitalia is like a 'knee jerk reaction' of the paediatrician because of its higher frequency and life-threatening consequences if remain undiagnosed and hence untreated. Aromatase deficiency (AD), a rare cause of '46, XX' disorder of sex development, mimics virilising CAH in many aspects; thus, the disease is often overlooked. Diagnosis of AD in women is much easier around puberty due to the presence of primary amenorrhoea, undeveloped breasts, androgen excess and tall stature with eunuchoid proportions. Diagnosing AD with confidence immediately after birth or during early childhood is a challenging task without genetic analysis. In resource-restricted settings, AD remains a diagnosis of exclusion particularly in this age group and history of maternal virilisation, non-progressive genital ambiguity, elevated gonadotrophins (follicle-stimulating hormone >>luteinising hormone), mildly delayed bone age with/without enlarged polycystic ovaries serve as important clues to the underlying AD., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.)